MADD (MAP kinase activating death domain) - Rat Genome Database

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Pathways
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Gene: MADD (MAP kinase activating death domain) Homo sapiens
Analyze
Symbol: MADD
Name: MAP kinase activating death domain
RGD ID: 732838
HGNC Page HGNC:6766
Description: Enables guanyl-nucleotide exchange factor activity. Involved in execution phase of apoptosis; regulation of cell cycle; and regulation of signal transduction. Located in cytosol and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DEEAH; DENN; differentially expressed in normal and neoplastic cells; FLJ35600; FLJ36300; IG20; insulinoma glucagonoma clone 20; insulinoma-glucagonoma protein 20; Insuloma-Glucagonoma protein 20; KIAA0358; MAP kinase-activating death domain protein; MAP-kinase activating death domain; NEDDISH; Rab3 GDP/GTP exchange factor; RAB3GEP; RabGEF
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,269,188 - 47,330,031 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,269,161 - 47,330,031 (+)EnsemblGRCh38hg38GRCh38
GRCh371147,290,739 - 47,351,582 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361147,247,535 - 47,308,158 (+)NCBINCBI36Build 36hg18NCBI36
Build 341147,248,259 - 47,308,157NCBI
Celera1147,430,145 - 47,490,862 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,989,904 - 47,050,670 (+)NCBIHuRef
CHM1_11147,290,116 - 47,350,822 (+)NCBICHM1_1
T2T-CHM13v2.01147,425,958 - 47,486,853 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA)
axon cytoplasm  (ISO)
cell projection  (IEA)
cytoplasm  (IEA,TAS)
cytosol  (IBA,IDA,TAS)
membrane  (IDA)
plasma membrane  (IDA,IEA,TAS)
synapse  (ISO)
synaptic vesicle  (ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of temperature regulation  (IAGP)
Alacrima  (IAGP)
Anterior pituitary hypoplasia  (IAGP)
Anteverted nares  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Broad forehead  (IAGP)
C1-C2 subluxation  (IAGP)
Cervical hemivertebrae  (IAGP)
Chronic constipation  (IAGP)
Chronic diarrhea  (IAGP)
Cryptorchidism  (IAGP)
Death in adolescence  (IAGP)
Death in childhood  (IAGP)
Death in infancy  (IAGP)
Decreased body weight  (IAGP)
Decreased circulating free T3  (IAGP)
Decreased circulating free T4 concentration  (IAGP)
Decreased heart rate variability  (IAGP)
Decreased hemoglobin concentration  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Dolichocephaly  (IAGP)
Dysphagia  (IAGP)
EEG abnormality  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Exocrine pancreatic insufficiency  (IAGP)
Exotropia  (IAGP)
Extra-axial cerebrospinal fluid accumulation  (IAGP)
Fetal akinesia sequence  (IAGP)
Frontal bossing  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hypermetropia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypohidrosis  (IAGP)
Hypotonia  (IAGP)
Impaired pain sensation  (IAGP)
Increased femoral anteversion  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Kyphosis  (IAGP)
Long eyelashes  (IAGP)
Long philtrum  (IAGP)
Low insertion of columella  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Malabsorption  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Moderate global developmental delay  (IAGP)
Motor delay  (IAGP)
Motor stereotypy  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Narrow mouth  (IAGP)
Narrow palate  (IAGP)
Neonatal hypoglycemia  (IAGP)
Neonatal hypotonia  (IAGP)
Neonatal respiratory distress  (IAGP)
Overlapping fingers  (IAGP)
Panhypopituitarism  (IAGP)
Plagiocephaly  (IAGP)
Pointed chin  (IAGP)
Polyhydramnios  (IAGP)
Prominent nasal tip  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Self-mutilation  (IAGP)
Severe global developmental delay  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Strabismus  (IAGP)
Thick vermilion border  (IAGP)
Thrombocytopenia  (IAGP)
Underdeveloped nasal alae  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. The onset of apoptosis of neurons induced by ischemia-reperfusion injury is delayed by transient period of hypertension in rats. Smrcka M, etal., Physiol Res. 2003;52(1):117-22.
Additional References at PubMed
PMID:8988362   PMID:9115275   PMID:9205841   PMID:9482930   PMID:9796103   PMID:10756096   PMID:10825539   PMID:10970871   PMID:11577081   PMID:12410563   PMID:12421765   PMID:12477932  
PMID:14695193   PMID:14702039   PMID:14716293   PMID:14735464   PMID:15007167   PMID:15103018   PMID:15208670   PMID:15489334   PMID:16273344   PMID:16344560   PMID:16682944   PMID:17314102  
PMID:17410194   PMID:18029348   PMID:18223207   PMID:18794122   PMID:18849981   PMID:19060911   PMID:19289468   PMID:19913121   PMID:20081858   PMID:20185807   PMID:20237496   PMID:20419449  
PMID:20484047   PMID:20571754   PMID:20628086   PMID:20936779   PMID:20937701   PMID:21044950   PMID:21103350   PMID:21873549   PMID:21873635   PMID:21887289   PMID:22482404   PMID:22529996  
PMID:22581228   PMID:22658674   PMID:22678883   PMID:22952844   PMID:23443411   PMID:23457619   PMID:24038283   PMID:25640309   PMID:25659891   PMID:25921289   PMID:26186194   PMID:26517243  
PMID:26673895   PMID:26972000   PMID:27070640   PMID:27880917   PMID:28302793   PMID:28514442   PMID:28986522   PMID:29507755   PMID:29509190   PMID:30021884   PMID:30760700   PMID:30947659  
PMID:31871319   PMID:32513696   PMID:32761064   PMID:33723354   PMID:33961781   PMID:34079125   PMID:34186245   PMID:34432599   PMID:34551092   PMID:34672954   PMID:35256949   PMID:35271311  
PMID:35337019   PMID:35563538   PMID:35696571   PMID:35748872   PMID:35914814   PMID:36215168   PMID:36543142   PMID:36931259   PMID:37932938  


Genomics

Comparative Map Data
MADD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381147,269,188 - 47,330,031 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1147,269,161 - 47,330,031 (+)EnsemblGRCh38hg38GRCh38
GRCh371147,290,739 - 47,351,582 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361147,247,535 - 47,308,158 (+)NCBINCBI36Build 36hg18NCBI36
Build 341147,248,259 - 47,308,157NCBI
Celera1147,430,145 - 47,490,862 (+)NCBICelera
Cytogenetic Map11p11.2NCBI
HuRef1146,989,904 - 47,050,670 (+)NCBIHuRef
CHM1_11147,290,116 - 47,350,822 (+)NCBICHM1_1
T2T-CHM13v2.01147,425,958 - 47,486,853 (+)NCBIT2T-CHM13v2.0
Madd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39290,967,705 - 91,013,404 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl290,967,705 - 91,014,182 (-)EnsemblGRCm39 Ensembl
GRCm38291,137,360 - 91,184,006 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl291,137,360 - 91,183,837 (-)EnsemblGRCm38mm10GRCm38
MGSCv37290,977,517 - 91,024,025 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36290,938,200 - 90,984,657 (-)NCBIMGSCv36mm8
Celera292,522,135 - 92,568,708 (-)NCBICelera
Cytogenetic Map2E1NCBI
cM Map250.46NCBI
Madd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8397,570,141 - 97,613,688 (-)NCBIGRCr8
mRatBN7.2377,114,330 - 77,157,865 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl377,114,314 - 77,157,701 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx380,593,357 - 80,636,039 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0389,192,364 - 89,235,046 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0387,043,634 - 87,086,083 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0379,960,301 - 80,003,023 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl379,960,301 - 80,003,032 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0386,669,054 - 86,711,776 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4375,498,321 - 75,541,073 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1375,408,586 - 75,437,445 (-)NCBI
Celera376,323,258 - 76,366,073 (-)NCBICelera
Cytogenetic Map3q24NCBI
Madd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955422902,969 - 940,201 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955422902,969 - 940,201 (-)NCBIChiLan1.0ChiLan1.0
MADD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2949,471,009 - 49,531,167 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11149,490,871 - 49,550,962 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01147,216,006 - 47,276,422 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11147,769,863 - 47,829,240 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1147,773,733 - 47,828,360 (+)Ensemblpanpan1.1panPan2
MADD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11842,290,226 - 42,332,237 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1842,290,754 - 42,328,586 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1841,019,254 - 41,060,604 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01842,944,691 - 42,986,383 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1842,944,691 - 42,986,478 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11842,430,983 - 42,472,278 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01841,986,221 - 42,027,872 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01842,715,501 - 42,756,968 (-)NCBIUU_Cfam_GSD_1.0
Madd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494719,779,478 - 19,825,054 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365621,892,033 - 1,932,418 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365621,891,120 - 1,936,559 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MADD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl215,270,789 - 15,315,477 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1215,270,783 - 15,315,459 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2216,477,477 - 16,538,588 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MADD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1117,987,573 - 18,041,317 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl117,986,860 - 18,042,266 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038115,287,755 - 115,344,365 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Madd
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247671,421,603 - 1,459,507 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247671,421,603 - 1,459,738 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MADD
178 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1 copy number loss See cases [RCV000051014] Chr11:46840454..48643003 [GRCh38]
Chr11:46862005..48664555 [GRCh37]
Chr11:46818581..48621131 [NCBI36]
Chr11:11p11.2		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:36508280-48643003)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052680]|See cases [RCV000052680] Chr11:36508280..48643003 [GRCh38]
Chr11:36529830..48664555 [GRCh37]
Chr11:36486406..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
NM_003682.3(MADD):c.4765C>T (p.Arg1589Ter) single nucleotide variant Malignant melanoma [RCV000069380] Chr11:47326780 [GRCh38]
Chr11:47348331 [GRCh37]
Chr11:47304907 [NCBI36]
Chr11:11p11.2		 not provided
NM_003682.3(MADD):c.4859C>T (p.Ser1620Phe) single nucleotide variant Malignant melanoma [RCV000069381] Chr11:47329065 [GRCh38]
Chr11:47350616 [GRCh37]
Chr11:47307192 [NCBI36]
Chr11:11p11.2		 not provided
NM_003682.3(MADD):c.2231C>T (p.Pro744Leu) single nucleotide variant Malignant melanoma [RCV000062224] Chr11:47285014 [GRCh38]
Chr11:47306565 [GRCh37]
Chr11:47263141 [NCBI36]
Chr11:11p11.2		 not provided
NM_001251935.1(NR1H3):c.1235G>A (p.Arg412Gln) single nucleotide variant Malignant melanoma [RCV000069379] Chr11:47268569 [GRCh38]
Chr11:47290120 [GRCh37]
Chr11:47246696 [NCBI36]
Chr11:11p11.2		 not provided
NM_001376571.1(MADD):c.3400G>A (p.Ala1134Thr) single nucleotide variant not provided [RCV000122510] Chr11:47292581 [GRCh38]
Chr11:47314132 [GRCh37]
Chr11:11p11.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1 copy number loss See cases [RCV000135405] Chr11:41118322..48643003 [GRCh38]
Chr11:41139872..48664555 [GRCh37]
Chr11:41096448..48621131 [NCBI36]
Chr11:11p12-11.2		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1 copy number loss See cases [RCV000137391] Chr11:39179252..49135735 [GRCh38]
Chr11:39200802..49157287 [GRCh37]
Chr11:39157378..49113863 [NCBI36]
Chr11:11p12-11.12		 pathogenic
GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3 copy number gain See cases [RCV000139422] Chr11:42727555..49135735 [GRCh38]
Chr11:42749105..49157287 [GRCh37]
Chr11:42705681..49113863 [NCBI36]
Chr11:11p12-11.12		 likely pathogenic
GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1 copy number loss See cases [RCV000139788] Chr11:47210659..47427331 [GRCh38]
Chr11:47232210..47448882 [GRCh37]
Chr11:47188786..47405458 [NCBI36]
Chr11:11p11.2		 pathogenic|likely benign
NM_000256.3(MYBPC3):c.-2053_*2307del deletion Familial hypertrophic cardiomyopathy 4 [RCV000168829]|Primary familial hypertrophic cardiomyopathy [RCV000168829] Chr11:47329436..47354700 [GRCh38]
Chr11:47350987..47376251 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p11.2(chr11:47310499-47351543)x3 copy number gain See cases [RCV000203443] Chr11:47310499..47351543 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4293G>A (p.Trp1431Ter) single nucleotide variant not provided [RCV000487551] Chr11:47315243 [GRCh38]
Chr11:47336794 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1618G>A (p.Glu540Lys) single nucleotide variant Inborn genetic diseases [RCV003266696] Chr11:47282529 [GRCh38]
Chr11:47304080 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1406C>T (p.Pro469Leu) single nucleotide variant Inborn genetic diseases [RCV003269688] Chr11:47281690 [GRCh38]
Chr11:47303241 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3760-2A>C single nucleotide variant not provided [RCV000585339] Chr11:47308589 [GRCh38]
Chr11:47330140 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p12-11.2(chr11:42475897-48372559)x1 copy number loss See cases [RCV000446383] Chr11:42475897..48372559 [GRCh37]
Chr11:11p12-11.2		 pathogenic
GRCh37/hg19 11p14.2-11.12(chr11:26574629-50508019)x3 copy number gain See cases [RCV000448603] Chr11:26574629..50508019 [GRCh37]
Chr11:11p14.2-11.12		 pathogenic
NM_001376571.1(MADD):c.979C>T (p.Arg327Ter) single nucleotide variant MADD-related condition [RCV003392306]|Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001256017]|not provided [RCV000585111] Chr11:47276747 [GRCh38]
Chr11:47298298 [GRCh37]
Chr11:11p11.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001376571.1(MADD):c.2927G>C (p.Arg976Pro) single nucleotide variant not provided [RCV000485172] Chr11:47289977 [GRCh38]
Chr11:47311528 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001376571.1(MADD):c.1577G>C (p.Gly526Ala) single nucleotide variant Inborn genetic diseases [RCV003290501] Chr11:47282488 [GRCh38]
Chr11:47304039 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3844G>T (p.Val1282Phe) single nucleotide variant Inborn genetic diseases [RCV003255209] Chr11:47308675 [GRCh38]
Chr11:47330226 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2446C>G (p.Leu816Val) single nucleotide variant Inborn genetic diseases [RCV003304396] Chr11:47285485 [GRCh38]
Chr11:47307036 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1988C>T (p.Ala663Val) single nucleotide variant Inborn genetic diseases [RCV003250136] Chr11:47284396 [GRCh38]
Chr11:47305947 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2293C>T (p.Arg765Trp) single nucleotide variant Inborn genetic diseases [RCV003290507] Chr11:47285076 [GRCh38]
Chr11:47306627 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46880514)_(47470726_?)del deletion Hypertrophic cardiomyopathy [RCV000629174] Chr11:46880514..47470726 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.268C>T (p.Arg90Ter) single nucleotide variant not provided [RCV003239052] Chr11:47274768 [GRCh38]
Chr11:47296319 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_001376571.1(MADD):c.4048G>A (p.Asp1350Asn) single nucleotide variant not provided [RCV001814681] Chr11:47309397 [GRCh38]
Chr11:47330948 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3070C>T (p.Gln1024Ter) single nucleotide variant Deeah syndrome [RCV001564052] Chr11:47290215 [GRCh38]
Chr11:47311766 [GRCh37]
Chr11:11p11.2		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_001376571.1(MADD):c.482G>A (p.Arg161His) single nucleotide variant MADD-related condition [RCV003978350]|not provided [RCV000959976] Chr11:47274982 [GRCh38]
Chr11:47296533 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.2096G>A (p.Arg699His) single nucleotide variant not provided [RCV001531098] Chr11:47284504 [GRCh38]
Chr11:47306055 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp) single nucleotide variant Deeah syndrome [RCV002487958]|MADD-related condition [RCV003920809]|not provided [RCV000894259] Chr11:47281614 [GRCh38]
Chr11:47303165 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_001376571.1(MADD):c.4337A>G (p.His1446Arg) single nucleotide variant not provided [RCV003314909] Chr11:47315287 [GRCh38]
Chr11:47336838 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro) single nucleotide variant Deeah syndrome [RCV002290509]|Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001784525]|not provided [RCV000994628] Chr11:47276805 [GRCh38]
Chr11:47298356 [GRCh37]
Chr11:11p11.2		 likely pathogenic|uncertain significance
NM_001376571.1(MADD):c.1210G>T (p.Val404Leu) single nucleotide variant Inborn genetic diseases [RCV003268758] Chr11:47278999 [GRCh38]
Chr11:47300550 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.131C>A (p.Thr44Asn) single nucleotide variant MADD-related condition [RCV003930541]|not provided [RCV000881494] Chr11:47274631 [GRCh38]
Chr11:47296182 [GRCh37]
Chr11:11p11.2		 benign
arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2) copy number loss Left ventricular noncompaction 10 [RCV000787297] Chr11:47343435..47375684 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.1290+3A>G single nucleotide variant MADD-related condition [RCV003913228]|not provided [RCV000947344] Chr11:47279082 [GRCh38]
Chr11:47300633 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.650G>A (p.Gly217Asp) single nucleotide variant not provided [RCV000962137] Chr11:47275150 [GRCh38]
Chr11:47296701 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.1806T>A (p.Ala602=) single nucleotide variant MADD-related condition [RCV003895473]|not provided [RCV000897297] Chr11:47282913 [GRCh38]
Chr11:47304464 [GRCh37]
Chr11:11p11.2		 benign|likely benign
NM_001376571.1(MADD):c.994C>T (p.Leu332Phe) single nucleotide variant not provided [RCV000994627] Chr11:47276762 [GRCh38]
Chr11:47298313 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1792A>G (p.Asn598Asp) single nucleotide variant not provided [RCV000963472] Chr11:47282899 [GRCh38]
Chr11:47304450 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2383C>T (p.Arg795Ter) single nucleotide variant Deeah syndrome [RCV001813903] Chr11:47285166 [GRCh38]
Chr11:47306717 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_001376571.1(MADD):c.4930C>G (p.Pro1644Ala) single nucleotide variant Inborn genetic diseases [RCV003289909] Chr11:47329127 [GRCh38]
Chr11:47350678 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2816+1G>A single nucleotide variant Deeah syndrome [RCV001250121] Chr11:47289494 [GRCh38]
Chr11:47311045 [GRCh37]
Chr11:11p11.2		 pathogenic|likely pathogenic
NM_001376571.1(MADD):c.509G>A (p.Arg170His) single nucleotide variant Inborn genetic diseases [RCV002568498]|not provided [RCV001577696] Chr11:47275009 [GRCh38]
Chr11:47296560 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2408A>G (p.Asn803Ser) single nucleotide variant not provided [RCV003318006] Chr11:47285191 [GRCh38]
Chr11:47306742 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1402A>G (p.Thr468Ala) single nucleotide variant not provided [RCV003318281] Chr11:47281686 [GRCh38]
Chr11:47303237 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3361+7A>G single nucleotide variant not provided [RCV001657465] Chr11:47290823 [GRCh38]
Chr11:47312374 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.2844G>A (p.Val948=) single nucleotide variant not provided [RCV000964207] Chr11:47289894 [GRCh38]
Chr11:47311445 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.3507T>G (p.Ser1169=) single nucleotide variant not provided [RCV000898165] Chr11:47293974 [GRCh38]
Chr11:47315525 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.3704G>A (p.Arg1235Gln) single nucleotide variant Deeah syndrome [RCV002465090] Chr11:47296000 [GRCh38]
Chr11:47317551 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2090C>T (p.Pro697Leu) single nucleotide variant Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV002472270] Chr11:47284498 [GRCh38]
Chr11:47306049 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2411G>A (p.Arg804Gln) single nucleotide variant not provided [RCV001092806] Chr11:47285194 [GRCh38]
Chr11:47306745 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.494C>G (p.Ala165Gly) single nucleotide variant Inborn genetic diseases [RCV002573296]|not provided [RCV001589630] Chr11:47274994 [GRCh38]
Chr11:47296545 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_001376571.1(MADD):c.770C>T (p.Ser257Phe) single nucleotide variant Deeah syndrome [RCV001256023] Chr11:47276009 [GRCh38]
Chr11:47297560 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.1115C>T (p.Pro372Leu) single nucleotide variant MADD-related condition [RCV001255978] Chr11:47278184 [GRCh38]
Chr11:47299735 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.963+1G>A single nucleotide variant Deeah syndrome [RCV001256022] Chr11:47276203 [GRCh38]
Chr11:47297754 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.593G>A (p.Arg198His) single nucleotide variant Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001256016]|not provided [RCV001760301] Chr11:47275093 [GRCh38]
Chr11:47296644 [GRCh37]
Chr11:11p11.2		 pathogenic|uncertain significance
NM_001376571.1(MADD):c.3637_3638del (p.Asp1212_Ser1213insTer) deletion Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001256024] Chr11:47295933..47295934 [GRCh38]
Chr11:47317484..47317485 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.1448A>G (p.Asp483Gly) single nucleotide variant Inborn genetic diseases [RCV001266356] Chr11:47281732 [GRCh38]
Chr11:47303283 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1061C>T (p.Pro354Leu) single nucleotide variant Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001256019] Chr11:47276829 [GRCh38]
Chr11:47298380 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.914G>T (p.Gly305Val) single nucleotide variant Deeah syndrome [RCV001256020] Chr11:47276153 [GRCh38]
Chr11:47297704 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_003682.4:c.(1862+1_1863-1)_(3759+1_3760-1)del deletion Deeah syndrome [RCV001256021] Chr11:11p11.2 pathogenic
NM_001376571.1(MADD):c.4080del (p.Lys1361fs) deletion MADD-related condition [RCV001255979] Chr11:47309533 [GRCh38]
Chr11:47331084 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.3559del (p.Val1186_Met1187insTer) deletion Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001256018] Chr11:47295538 [GRCh38]
Chr11:47317089 [GRCh37]
Chr11:11p11.2		 pathogenic
NC_000011.9:g.(?_45827353)_(47804770_?)dup duplication Leukocyte adhesion deficiency type II [RCV001296459] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2251G>A (p.Val751Met) single nucleotide variant not provided [RCV001694377] Chr11:47285034 [GRCh38]
Chr11:47306585 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.1041G>A (p.Glu347=) single nucleotide variant Deeah syndrome [RCV001776264]|Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001776263]|not provided [RCV001648264] Chr11:47276809 [GRCh38]
Chr11:47298360 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.1469+14G>A single nucleotide variant Deeah syndrome [RCV002243583] Chr11:47281767 [GRCh38]
Chr11:47303318 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2294G>A (p.Arg765Gln) single nucleotide variant Deeah syndrome [RCV001775509]|MADD-related condition [RCV003976169]|Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001775508] Chr11:47285077 [GRCh38]
Chr11:47306628 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.710C>G (p.Ser237Ter) single nucleotide variant not provided [RCV001786907] Chr11:47275949 [GRCh38]
Chr11:47297500 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.1440T>C (p.Asn480=) single nucleotide variant Deeah syndrome [RCV001775507]|Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV001775506] Chr11:47281724 [GRCh38]
Chr11:47303275 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.4585G>T (p.Ala1529Ser) single nucleotide variant not provided [RCV001776835] Chr11:47324307 [GRCh38]
Chr11:47345858 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1291-2A>G single nucleotide variant Deeah syndrome [RCV001814845] Chr11:47281573 [GRCh38]
Chr11:47303124 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_001376571.1(MADD):c.4402C>T (p.Arg1468Cys) single nucleotide variant not provided [RCV001811690] Chr11:47323695 [GRCh38]
Chr11:47345246 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.417C>G (p.Gly139=) single nucleotide variant MADD-related condition [RCV003911022]|not provided [RCV001816101] Chr11:47274917 [GRCh38]
Chr11:47296468 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.310C>T (p.Arg104Ter) single nucleotide variant Deeah syndrome [RCV001814943] Chr11:47274810 [GRCh38]
Chr11:47296361 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NC_000011.9:g.(?_46880534)_(47470516_?)del deletion Fetal akinesia deformation sequence 1 [RCV001982909] Chr11:46880534..47470516 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.1205A>G (p.Asn402Ser) single nucleotide variant not provided [RCV001892861] Chr11:47278274 [GRCh38]
Chr11:47299825 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4253A>G (p.Asp1418Gly) single nucleotide variant not provided [RCV001892862] Chr11:47311826 [GRCh38]
Chr11:47333377 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_47348153)_(47353429_?)del deletion Hypertrophic cardiomyopathy [RCV001948990] Chr11:47348153..47353429 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_46880524)_(47374208_?)del deletion Hypertrophic cardiomyopathy [RCV001951145] Chr11:46880524..47374208 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.2903G>A (p.Arg968Gln) single nucleotide variant Deeah syndrome [RCV002243584] Chr11:47289953 [GRCh38]
Chr11:47311504 [GRCh37]
Chr11:11p11.2		 uncertain significance
NC_000011.9:g.(?_45827353)_(47804770_?)del deletion Leukocyte adhesion deficiency type II [RCV003119908] Chr11:45827353..47804770 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.1222A>C (p.Thr408Pro) single nucleotide variant not provided [RCV003120341] Chr11:47279011 [GRCh38]
Chr11:47300562 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter) single nucleotide variant Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type [RCV002273085] Chr11:47309563 [GRCh38]
Chr11:47331114 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.94C>A (p.Pro32Thr) single nucleotide variant not provided [RCV003129514] Chr11:47274594 [GRCh38]
Chr11:47296145 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2739G>T (p.Gln913His) single nucleotide variant not provided [RCV002275448] Chr11:47289416 [GRCh38]
Chr11:47310967 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2260C>T (p.Arg754Cys) single nucleotide variant Deeah syndrome [RCV002275634] Chr11:47285043 [GRCh38]
Chr11:47306594 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.494C>T (p.Ala165Val) single nucleotide variant not provided [RCV002276298] Chr11:47274994 [GRCh38]
Chr11:47296545 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1943G>T (p.Cys648Phe) single nucleotide variant Deeah syndrome [RCV002275633]|MADD-related condition [RCV003408199] Chr11:47284258 [GRCh38]
Chr11:47305809 [GRCh37]
Chr11:11p11.2		 uncertain significance
GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3 copy number gain See cases [RCV002286338] Chr11:51581311..54891247 [GRCh37]
Chr11:11p11.2-q12.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001376571.1(MADD):c.2558T>G (p.Leu853Arg) single nucleotide variant not provided [RCV003236126] Chr11:47286439 [GRCh38]
Chr11:47307990 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.81C>A (p.Ser27Arg) single nucleotide variant Inborn genetic diseases [RCV003256222] Chr11:47274581 [GRCh38]
Chr11:47296132 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2389A>G (p.Ser797Gly) single nucleotide variant Inborn genetic diseases [RCV002880193] Chr11:47285172 [GRCh38]
Chr11:47306723 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3722G>C (p.Ser1241Thr) single nucleotide variant Inborn genetic diseases [RCV002682986] Chr11:47296018 [GRCh38]
Chr11:47317569 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2104T>A (p.Ser702Thr) single nucleotide variant Inborn genetic diseases [RCV002683514] Chr11:47284512 [GRCh38]
Chr11:47306063 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.295C>T (p.Arg99Cys) single nucleotide variant Inborn genetic diseases [RCV002794405] Chr11:47274795 [GRCh38]
Chr11:47296346 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3305G>A (p.Gly1102Asp) single nucleotide variant Inborn genetic diseases [RCV002997456] Chr11:47290760 [GRCh38]
Chr11:47312311 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2200G>A (p.Gly734Ser) single nucleotide variant Inborn genetic diseases [RCV002860215] Chr11:47284983 [GRCh38]
Chr11:47306534 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3416-5C>T single nucleotide variant Inborn genetic diseases [RCV002837129] Chr11:47293878 [GRCh38]
Chr11:47315429 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2309dup (p.Asn770fs) duplication not provided [RCV002510066] Chr11:47285090..47285091 [GRCh38]
Chr11:47306641..47306642 [GRCh37]
Chr11:11p11.2		 conflicting interpretations of pathogenicity
NM_001376571.1(MADD):c.2344dup (p.Glu782fs) duplication not provided [RCV002971583] Chr11:47285126..47285127 [GRCh38]
Chr11:47306677..47306678 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.4392_4395del (p.Cys1464fs) microsatellite Inborn genetic diseases [RCV002879515] Chr11:47323683..47323686 [GRCh38]
Chr11:47345234..47345237 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.592C>T (p.Arg198Cys) single nucleotide variant Inborn genetic diseases [RCV002860166] Chr11:47275092 [GRCh38]
Chr11:47296643 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3680G>A (p.Gly1227Asp) single nucleotide variant Inborn genetic diseases [RCV002684346] Chr11:47295976 [GRCh38]
Chr11:47317527 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.233T>C (p.Val78Ala) single nucleotide variant Inborn genetic diseases [RCV002774512] Chr11:47274733 [GRCh38]
Chr11:47296284 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3304G>C (p.Gly1102Arg) single nucleotide variant Inborn genetic diseases [RCV002992700] Chr11:47290759 [GRCh38]
Chr11:47312310 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3560T>C (p.Met1187Thr) single nucleotide variant Inborn genetic diseases [RCV002973404] Chr11:47295539 [GRCh38]
Chr11:47317090 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2222C>A (p.Ser741Tyr) single nucleotide variant Inborn genetic diseases [RCV002882625] Chr11:47285005 [GRCh38]
Chr11:47306556 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2889G>A (p.Met963Ile) single nucleotide variant Inborn genetic diseases [RCV002779086] Chr11:47289939 [GRCh38]
Chr11:47311490 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2156C>G (p.Ser719Cys) single nucleotide variant Inborn genetic diseases [RCV002733878] Chr11:47284564 [GRCh38]
Chr11:47306115 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2085C>G (p.Asn695Lys) single nucleotide variant Inborn genetic diseases [RCV002753031] Chr11:47284493 [GRCh38]
Chr11:47306044 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2900G>C (p.Arg967Pro) single nucleotide variant Inborn genetic diseases [RCV002821626] Chr11:47289950 [GRCh38]
Chr11:47311501 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3818G>A (p.Arg1273His) single nucleotide variant Inborn genetic diseases [RCV002997930] Chr11:47308649 [GRCh38]
Chr11:47330200 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3701C>T (p.Ser1234Phe) single nucleotide variant Inborn genetic diseases [RCV002799354] Chr11:47295997 [GRCh38]
Chr11:47317548 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.469C>T (p.Pro157Ser) single nucleotide variant Inborn genetic diseases [RCV002976951] Chr11:47274969 [GRCh38]
Chr11:47296520 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.473G>A (p.Arg158Gln) single nucleotide variant Inborn genetic diseases [RCV002977909] Chr11:47274973 [GRCh38]
Chr11:47296524 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2564G>A (p.Arg855Gln) single nucleotide variant Inborn genetic diseases [RCV002998262]|not provided [RCV003314758] Chr11:47286445 [GRCh38]
Chr11:47307996 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2023G>A (p.Glu675Lys) single nucleotide variant Inborn genetic diseases [RCV002951385] Chr11:47284431 [GRCh38]
Chr11:47305982 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2804C>T (p.Ser935Phe) single nucleotide variant Inborn genetic diseases [RCV002693397] Chr11:47289481 [GRCh38]
Chr11:47311032 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3275G>A (p.Gly1092Glu) single nucleotide variant Inborn genetic diseases [RCV002884581] Chr11:47290730 [GRCh38]
Chr11:47312281 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4424A>T (p.Tyr1475Phe) single nucleotide variant Inborn genetic diseases [RCV002845609] Chr11:47323717 [GRCh38]
Chr11:47345268 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.199C>T (p.Arg67Trp) single nucleotide variant Inborn genetic diseases [RCV002743188] Chr11:47274699 [GRCh38]
Chr11:47296250 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4594C>T (p.Arg1532Ter) single nucleotide variant not provided [RCV002931861] Chr11:47324316 [GRCh38]
Chr11:47345867 [GRCh37]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.4241A>G (p.Asn1414Ser) single nucleotide variant Inborn genetic diseases [RCV002893548] Chr11:47311814 [GRCh38]
Chr11:47333365 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3944C>T (p.Ser1315Phe) single nucleotide variant Inborn genetic diseases [RCV002743994] Chr11:47309293 [GRCh38]
Chr11:47330844 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2491C>G (p.Pro831Ala) single nucleotide variant Inborn genetic diseases [RCV003004699] Chr11:47285530 [GRCh38]
Chr11:47307081 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2674A>C (p.Met892Leu) single nucleotide variant Inborn genetic diseases [RCV002787402] Chr11:47288988 [GRCh38]
Chr11:47310539 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4208C>T (p.Ser1403Leu) single nucleotide variant Inborn genetic diseases [RCV002934390] Chr11:47311781 [GRCh38]
Chr11:47333332 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2996C>T (p.Pro999Leu) single nucleotide variant Inborn genetic diseases [RCV002960828]|not provided [RCV003128888] Chr11:47290046 [GRCh38]
Chr11:47311597 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.508C>T (p.Arg170Cys) single nucleotide variant Inborn genetic diseases [RCV002769727] Chr11:47275008 [GRCh38]
Chr11:47296559 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1655G>T (p.Gly552Val) single nucleotide variant Inborn genetic diseases [RCV002807676] Chr11:47282566 [GRCh38]
Chr11:47304117 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.673C>T (p.Arg225Trp) single nucleotide variant Inborn genetic diseases [RCV002940176] Chr11:47275912 [GRCh38]
Chr11:47297463 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3358A>G (p.Ile1120Val) single nucleotide variant Inborn genetic diseases [RCV002718732] Chr11:47290813 [GRCh38]
Chr11:47312364 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1347T>G (p.His449Gln) single nucleotide variant Inborn genetic diseases [RCV002920127] Chr11:47281631 [GRCh38]
Chr11:47303182 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1223C>T (p.Thr408Ile) single nucleotide variant Inborn genetic diseases [RCV002965872] Chr11:47279012 [GRCh38]
Chr11:47300563 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2633C>G (p.Thr878Arg) single nucleotide variant Inborn genetic diseases [RCV002936871] Chr11:47286514 [GRCh38]
Chr11:47308065 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.46G>T (p.Val16Leu) single nucleotide variant Inborn genetic diseases [RCV002961811] Chr11:47273960 [GRCh38]
Chr11:47295511 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2265G>T (p.Gln755His) single nucleotide variant Inborn genetic diseases [RCV002680420]|not provided [RCV003149062] Chr11:47285048 [GRCh38]
Chr11:47306599 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4853A>C (p.His1618Pro) single nucleotide variant Inborn genetic diseases [RCV002724468] Chr11:47329050 [GRCh38]
Chr11:47350601 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2261G>A (p.Arg754His) single nucleotide variant Inborn genetic diseases [RCV002678009] Chr11:47285044 [GRCh38]
Chr11:47306595 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3362-1G>C single nucleotide variant Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV003224992] Chr11:47292542 [GRCh38]
Chr11:47314093 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1615G>A (p.Ala539Thr) single nucleotide variant Inborn genetic diseases [RCV003213576] Chr11:47282526 [GRCh38]
Chr11:47304077 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4267C>G (p.Leu1423Val) single nucleotide variant not provided [RCV003214170] Chr11:47311840 [GRCh38]
Chr11:47333391 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4887G>T (p.Ser1629=) single nucleotide variant MADD-related condition [RCV003906658]|not provided [RCV003142616] Chr11:47329084 [GRCh38]
Chr11:47350635 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_001376571.1(MADD):c.671G>T (p.Trp224Leu) single nucleotide variant not provided [RCV003134149] Chr11:47275910 [GRCh38]
Chr11:47297461 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3481G>A (p.Ala1161Thr) single nucleotide variant MADD-related condition [RCV003906657]|not provided [RCV003134150] Chr11:47293948 [GRCh38]
Chr11:47315499 [GRCh37]
Chr11:11p11.2		 likely benign|uncertain significance
NM_001376571.1(MADD):c.2123G>A (p.Ser708Asn) single nucleotide variant not provided [RCV003134146] Chr11:47284531 [GRCh38]
Chr11:47306082 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.774A>G (p.Pro258=) single nucleotide variant not provided [RCV003134147] Chr11:47276013 [GRCh38]
Chr11:47297564 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1811C>G (p.Ala604Gly) single nucleotide variant not provided [RCV003134148] Chr11:47282918 [GRCh38]
Chr11:47304469 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3458_3459del (p.Glu1153fs) microsatellite Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia [RCV003224993] Chr11:47293923..47293924 [GRCh38]
Chr11:47315474..47315475 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_001376571.1(MADD):c.1768A>G (p.Ile590Val) single nucleotide variant Inborn genetic diseases [RCV003204363] Chr11:47282875 [GRCh38]
Chr11:47304426 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1831C>T (p.Arg611Trp) single nucleotide variant not provided [RCV003323211] Chr11:47282938 [GRCh38]
Chr11:47304489 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2018T>C (p.Ile673Thr) single nucleotide variant not provided [RCV003325053] Chr11:47284426 [GRCh38]
Chr11:47305977 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3229C>G (p.Arg1077Gly) single nucleotide variant Inborn genetic diseases [RCV003341563]|not provided [RCV003323010] Chr11:47290684 [GRCh38]
Chr11:47312235 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.144G>A (p.Leu48=) single nucleotide variant not provided [RCV003395777] Chr11:47274644 [GRCh38]
Chr11:47296195 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.4383C>T (p.Cys1461=) single nucleotide variant not provided [RCV003395779] Chr11:47323676 [GRCh38]
Chr11:47345227 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2495A>G (p.Asn832Ser) single nucleotide variant Inborn genetic diseases [RCV003351664] Chr11:47285534 [GRCh38]
Chr11:47307085 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4763G>A (p.Cys1588Tyr) single nucleotide variant Inborn genetic diseases [RCV003364719] Chr11:47326769 [GRCh38]
Chr11:47348320 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2818G>A (p.Glu940Lys) single nucleotide variant Inborn genetic diseases [RCV003347284] Chr11:47289868 [GRCh38]
Chr11:47311419 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.3477C>G (p.Ile1159Met) single nucleotide variant Inborn genetic diseases [RCV003365910] Chr11:47293944 [GRCh38]
Chr11:47315495 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1113C>T (p.Thr371=) single nucleotide variant not provided [RCV003456771] Chr11:47278182 [GRCh38]
Chr11:47299733 [GRCh37]
Chr11:11p11.2		 likely benign
NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del deletion Hypertrophic cardiomyopathy 4 [RCV003448654] Chr11:47331627..47335115 [GRCh38]
Chr11:11p11.2		 pathogenic
NM_001376571.1(MADD):c.640A>G (p.Ile214Val) single nucleotide variant not specified [RCV003479914] Chr11:47275140 [GRCh38]
Chr11:47296691 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.1441G>A (p.Asp481Asn) single nucleotide variant not provided [RCV003443906] Chr11:47281725 [GRCh38]
Chr11:47303276 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2955C>A (p.Arg985=) single nucleotide variant not provided [RCV003395778] Chr11:47290005 [GRCh38]
Chr11:47311556 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.1705+15C>T single nucleotide variant not specified [RCV003479913] Chr11:47282631 [GRCh38]
Chr11:47304182 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2458T>G (p.Ser820Ala) single nucleotide variant not provided [RCV003488010] Chr11:47285497 [GRCh38]
Chr11:47307048 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.382T>C (p.Ser128Pro) single nucleotide variant MADD-related condition [RCV003402081] Chr11:47274882 [GRCh38]
Chr11:47296433 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.780C>T (p.Pro260=) single nucleotide variant not provided [RCV003390047] Chr11:47276019 [GRCh38]
Chr11:47297570 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2486G>A (p.Ser829Asn) single nucleotide variant MADD-related condition [RCV003414343] Chr11:47285525 [GRCh38]
Chr11:47307076 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.568C>T (p.Arg190Ter) single nucleotide variant MADD-related condition [RCV003402148] Chr11:47275068 [GRCh38]
Chr11:47296619 [GRCh37]
Chr11:11p11.2		 likely pathogenic
NM_001376571.1(MADD):c.3084C>T (p.His1028=) single nucleotide variant MADD-related condition [RCV003954124]|not provided [RCV003390048] Chr11:47290229 [GRCh38]
Chr11:47311780 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.4932G>A (p.Pro1644=) single nucleotide variant not provided [RCV003395780] Chr11:47329129 [GRCh38]
Chr11:47350680 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.1778G>A (p.Arg593His) single nucleotide variant not provided [RCV003488011] Chr11:47282885 [GRCh38]
Chr11:47304436 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4223T>A (p.Val1408Glu) single nucleotide variant not provided [RCV003488009] Chr11:47311796 [GRCh38]
Chr11:47333347 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2938C>T (p.Leu980=) single nucleotide variant MADD-related condition [RCV003969196] Chr11:47289988 [GRCh38]
Chr11:47311539 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2754T>C (p.Ile918=) single nucleotide variant MADD-related condition [RCV003924395] Chr11:47289431 [GRCh38]
Chr11:47310982 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.1083A>G (p.Ala361=) single nucleotide variant MADD-related condition [RCV003976365] Chr11:47276851 [GRCh38]
Chr11:47298402 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.4849-7C>T single nucleotide variant MADD-related condition [RCV003963819] Chr11:47329039 [GRCh38]
Chr11:47350590 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.3760-6C>T single nucleotide variant MADD-related condition [RCV003912019] Chr11:47308585 [GRCh38]
Chr11:47330136 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2241C>T (p.Gly747=) single nucleotide variant not provided [RCV003884099] Chr11:47285024 [GRCh38]
Chr11:47306575 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2296C>T (p.Arg766Ter) single nucleotide variant MADD-related condition [RCV003917027] Chr11:47285079 [GRCh38]
Chr11:47306630 [GRCh37]
Chr11:11p11.2		 benign
NM_001376571.1(MADD):c.975G>A (p.Gln325=) single nucleotide variant MADD-related condition [RCV003937377] Chr11:47276743 [GRCh38]
Chr11:47298294 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.4413C>T (p.Ile1471=) single nucleotide variant MADD-related condition [RCV003912072] Chr11:47323706 [GRCh38]
Chr11:47345257 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2502C>T (p.Thr834=) single nucleotide variant MADD-related condition [RCV003934146] Chr11:47285541 [GRCh38]
Chr11:47307092 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.1854T>G (p.Thr618=) single nucleotide variant not provided [RCV003885849] Chr11:47282961 [GRCh38]
Chr11:47304512 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2700C>T (p.Pro900=) single nucleotide variant MADD-related condition [RCV003923971] Chr11:47289014 [GRCh38]
Chr11:47310565 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.4440C>T (p.Tyr1480=) single nucleotide variant MADD-related condition [RCV003976788] Chr11:47323733 [GRCh38]
Chr11:47345284 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.2106T>G (p.Ser702=) single nucleotide variant not provided [RCV003884970] Chr11:47284514 [GRCh38]
Chr11:47306065 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.1257A>G (p.Pro419=) single nucleotide variant MADD-related condition [RCV003904246] Chr11:47279046 [GRCh38]
Chr11:47300597 [GRCh37]
Chr11:11p11.2		 likely benign
NM_001376571.1(MADD):c.1853C>G (p.Thr618Ser) single nucleotide variant Inborn genetic diseases [RCV003380938] Chr11:47282960 [GRCh38]
Chr11:47304511 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.4952G>T (p.Ter1651Leu) single nucleotide variant not provided [RCV003131539] Chr11:47329149 [GRCh38]
Chr11:47350700 [GRCh37]
Chr11:11p11.2		 uncertain significance
NM_001376571.1(MADD):c.2851A>G (p.Ser951Gly) single nucleotide variant Inborn genetic diseases [RCV003345430] Chr11:47289901 [GRCh38]
Chr11:47311452 [GRCh37]
Chr11:11p11.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9184
Count of miRNA genes:1086
Interacting mature miRNAs:1373
Transcripts:ENST00000311027, ENST00000342922, ENST00000349238, ENST00000395336, ENST00000395344, ENST00000402192, ENST00000402799, ENST00000405573, ENST00000406482, ENST00000407859, ENST00000422579, ENST00000428807, ENST00000444117, ENST00000453571, ENST00000460452, ENST00000469699, ENST00000489415, ENST00000494403, ENST00000524530, ENST00000524686, ENST00000526603, ENST00000534808
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH76662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,351,332 - 47,351,582UniSTSGRCh37
Build 361147,307,908 - 47,308,158RGDNCBI36
Celera1147,490,612 - 47,490,862RGD
Cytogenetic Map11p11.2UniSTS
HuRef1147,050,420 - 47,050,670UniSTS
PMC33205P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,289,870 - 47,290,125UniSTSGRCh37
Build 361147,246,446 - 47,246,701RGDNCBI36
Celera1147,429,088 - 47,429,343RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,988,847 - 46,989,102UniSTS
PMC99927P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,289,869 - 47,290,195UniSTSGRCh37
Build 361147,246,445 - 47,246,771RGDNCBI36
Celera1147,429,087 - 47,429,413RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,988,846 - 46,989,172UniSTS
NR1H3_7962  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,290,095 - 47,290,595UniSTSGRCh37
Build 361147,246,671 - 47,247,171RGDNCBI36
Celera1147,429,313 - 47,429,813RGD
HuRef1146,989,072 - 46,989,572UniSTS
STS-U22662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,290,114 - 47,290,349UniSTSGRCh37
GRCh371147,290,239 - 47,290,352UniSTSGRCh37
Build 361147,246,815 - 47,246,928RGDNCBI36
Celera1147,429,457 - 47,429,570RGD
Celera1147,429,332 - 47,429,567UniSTS
Cytogenetic Map11p11.2UniSTS
HuRef1146,989,091 - 46,989,326UniSTS
HuRef1146,989,216 - 46,989,329UniSTS
GeneMap99-GB4 RH Map11167.74UniSTS
RH79033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,289,878 - 47,290,257UniSTSGRCh37
Build 361147,246,454 - 47,246,833RGDNCBI36
Celera1147,429,096 - 47,429,475RGD
Cytogenetic Map11p11.2UniSTS
HuRef1146,988,855 - 46,989,234UniSTS
GeneMap99-GB4 RH Map11168.33UniSTS
WI-20765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371147,351,330 - 47,351,582UniSTSGRCh37
Build 361147,307,906 - 47,308,158RGDNCBI36
Celera1147,490,610 - 47,490,862RGD
Cytogenetic Map11p11.2UniSTS
HuRef1147,050,418 - 47,050,670UniSTS
GeneMap99-GB4 RH Map11169.38UniSTS
Whitehead-RH Map11160.1UniSTS
ksks34  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1146,988,517 - 46,988,812UniSTS
STS-U22662  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p11.2UniSTS
GeneMap99-GB4 RH Map11167.87UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2401 2340 1390 295 1544 138 4238 1905 3384 310 1417 1587 170 1163 2685 1 1
Low 38 651 336 329 407 327 119 292 350 109 43 26 5 1 41 103 4 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_130476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_164842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC018410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF440100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF440101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF440102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF440103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF440434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU077339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE242736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA187733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA759613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U44953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U48254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000311027   ⟹   ENSP00000310933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,674 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000342922   ⟹   ENSP00000343902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,376 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000349238   ⟹   ENSP00000304505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,674 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000395336   ⟹   ENSP00000378745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,148 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000395344   ⟹   ENSP00000378753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,684 - 47,329,357 (+)Ensembl
RefSeq Acc Id: ENST00000402192   ⟹   ENSP00000384287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,156 - 47,330,030 (+)Ensembl
RefSeq Acc Id: ENST00000402799   ⟹   ENSP00000385585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,674 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000405573   ⟹   ENSP00000384483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,292,527 - 47,325,035 (+)Ensembl
RefSeq Acc Id: ENST00000406482   ⟹   ENSP00000384435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,674 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000407859   ⟹   ENSP00000384204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,674 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000422579   ⟹   ENSP00000402364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,272,244 - 47,274,905 (+)Ensembl
RefSeq Acc Id: ENST00000428807   ⟹   ENSP00000398167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,672 - 47,278,198 (+)Ensembl
RefSeq Acc Id: ENST00000444117   ⟹   ENSP00000413116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,693 - 47,274,909 (+)Ensembl
RefSeq Acc Id: ENST00000453571   ⟹   ENSP00000388255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,161 - 47,274,726 (+)Ensembl
RefSeq Acc Id: ENST00000460452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,323,671 - 47,327,186 (+)Ensembl
RefSeq Acc Id: ENST00000469699
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,328,142 - 47,329,406 (+)Ensembl
RefSeq Acc Id: ENST00000489415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,276,028 - 47,282,595 (+)Ensembl
RefSeq Acc Id: ENST00000494403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,324,304 - 47,325,300 (+)Ensembl
RefSeq Acc Id: ENST00000524530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,284,946 - 47,290,069 (+)Ensembl
RefSeq Acc Id: ENST00000524686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,285,271 - 47,289,921 (+)Ensembl
RefSeq Acc Id: ENST00000526603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,133 - 47,330,017 (+)Ensembl
RefSeq Acc Id: ENST00000534808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,269,677 - 47,274,997 (+)Ensembl
RefSeq Acc Id: ENST00000634938   ⟹   ENSP00000489300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,157 - 47,329,998 (+)Ensembl
RefSeq Acc Id: ENST00000706886   ⟹   ENSP00000516602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,118 - 47,330,019 (+)Ensembl
RefSeq Acc Id: ENST00000706887   ⟹   ENSP00000516604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,133 - 47,330,031 (+)Ensembl
RefSeq Acc Id: ENST00000706888   ⟹   ENSP00000516605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,134 - 47,329,893 (+)Ensembl
RefSeq Acc Id: ENST00000706889   ⟹   ENSP00000516606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,134 - 47,329,990 (+)Ensembl
RefSeq Acc Id: ENST00000706890   ⟹   ENSP00000516607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,134 - 47,330,019 (+)Ensembl
RefSeq Acc Id: ENST00000706891   ⟹   ENSP00000516608
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1147,270,162 - 47,330,017 (+)Ensembl
RefSeq Acc Id: NM_001135943   ⟹   NP_001129415
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,860 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001135944   ⟹   NP_001129416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,388 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376571   ⟹   NP_001363500
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376572   ⟹   NP_001363501
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376573   ⟹   NP_001363502
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376574   ⟹   NP_001363503
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376575   ⟹   NP_001363504
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376576   ⟹   NP_001363505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376577   ⟹   NP_001363506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376578   ⟹   NP_001363507
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376579   ⟹   NP_001363508
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376580   ⟹   NP_001363509
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376581   ⟹   NP_001363510
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376582   ⟹   NP_001363511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376583   ⟹   NP_001363512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376584   ⟹   NP_001363513
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376585   ⟹   NP_001363514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376586   ⟹   NP_001363515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376593   ⟹   NP_001363522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376594   ⟹   NP_001363523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376595   ⟹   NP_001363524
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,375 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,145 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376596   ⟹   NP_001363525
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376597   ⟹   NP_001363526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376598   ⟹   NP_001363527
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376599   ⟹   NP_001363528
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376600   ⟹   NP_001363529
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376601   ⟹   NP_001363530
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,271,137 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,427,908 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376602   ⟹   NP_001363531
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376603   ⟹   NP_001363532
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376604   ⟹   NP_001363533
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376605   ⟹   NP_001363534
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376606   ⟹   NP_001363535
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376607   ⟹   NP_001363536
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376608   ⟹   NP_001363537
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376609   ⟹   NP_001363538
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376610   ⟹   NP_001363539
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376611   ⟹   NP_001363540
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376612   ⟹   NP_001363541
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376613   ⟹   NP_001363542
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376614   ⟹   NP_001363543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376615   ⟹   NP_001363544
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376616   ⟹   NP_001363545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376617   ⟹   NP_001363546
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376618   ⟹   NP_001363547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376619   ⟹   NP_001363548
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376620   ⟹   NP_001363549
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376621   ⟹   NP_001363550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376622   ⟹   NP_001363551
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376623   ⟹   NP_001363552
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376624   ⟹   NP_001363553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376625   ⟹   NP_001363554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376626   ⟹   NP_001363555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376627   ⟹   NP_001363556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376628   ⟹   NP_001363557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376629   ⟹   NP_001363558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376630   ⟹   NP_001363559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376631   ⟹   NP_001363560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376632   ⟹   NP_001363561
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376633   ⟹   NP_001363562
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376634   ⟹   NP_001363563
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376635   ⟹   NP_001363564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376636   ⟹   NP_001363565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376637   ⟹   NP_001363566
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376638   ⟹   NP_001363567
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376639   ⟹   NP_001363568
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376640   ⟹   NP_001363569
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376641   ⟹   NP_001363570
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,375 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,145 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376642   ⟹   NP_001363571
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376643   ⟹   NP_001363572
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376644   ⟹   NP_001363573
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376645   ⟹   NP_001363574
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376646   ⟹   NP_001363575
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376647   ⟹   NP_001363576
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376648   ⟹   NP_001363577
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376649   ⟹   NP_001363578
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376650   ⟹   NP_001363579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376651   ⟹   NP_001363580
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,188 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,425,958 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376652   ⟹   NP_001363581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376653   ⟹   NP_001363582
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376654   ⟹   NP_001363583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376655   ⟹   NP_001363584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376656   ⟹   NP_001363585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376657   ⟹   NP_001363586
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376658   ⟹   NP_001363587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376659   ⟹   NP_001363588
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376660   ⟹   NP_001363589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376661   ⟹   NP_001363590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376662   ⟹   NP_001363591
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001376663   ⟹   NP_001363592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003682   ⟹   NP_003673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,247,775 - 47,308,158 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,388 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130470   ⟹   NP_569826
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,375 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,247,535 - 47,308,158 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,116 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,145 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130471   ⟹   NP_569827
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,247,775 - 47,308,158 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,388 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130472   ⟹   NP_569828
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,247,775 - 47,308,158 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,388 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130473   ⟹   NP_569829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,247,775 - 47,308,158 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,388 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130474   ⟹   NP_569830
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,663 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,247,775 - 47,308,158 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,388 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,433 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130475   ⟹   NP_569831
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,248,260 - 47,308,158 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,860 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NM_130476   ⟹   NP_569832
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
GRCh371147,290,927 - 47,351,582 (+)ENTREZGENE
Build 361147,248,260 - 47,308,157 (+)NCBI Archive
HuRef1146,989,904 - 47,050,670 (+)ENTREZGENE
CHM1_11147,290,860 - 47,350,822 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164835
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164836
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164837
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164838
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164839
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164840
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164841
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
RefSeq Acc Id: NR_164842
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,133 - 47,330,031 (+)NCBI
T2T-CHM13v2.01147,426,903 - 47,486,853 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129415 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129416 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363500 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363501 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363502 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363503 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363504 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363505 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363506 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363507 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363508 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363509 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363510 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363511 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363512 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363513 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363514 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363515 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363522 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363523 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363524 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363525 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363526 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363527 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363528 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363529 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363530 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363531 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363532 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363533 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363534 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363535 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363536 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363537 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363538 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363539 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363540 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363541 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363542 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363543 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363544 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363545 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363546 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363547 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363548 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363549 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363550 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363551 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363552 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363554 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363555 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363556 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363557 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363558 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363559 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363560 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363561 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363562 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363563 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363564 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363565 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363566 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363567 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363568 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363569 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363570 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363571 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363572 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363573 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363574 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363575 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363576 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363577 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363578 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363579 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363580 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363581 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363582 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363583 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363584 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363585 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363586 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363587 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363588 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363590 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363591 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363592 (Get FASTA)   NCBI Sequence Viewer  
  NP_003673 (Get FASTA)   NCBI Sequence Viewer  
  NP_569826 (Get FASTA)   NCBI Sequence Viewer  
  NP_569827 (Get FASTA)   NCBI Sequence Viewer  
  NP_569828 (Get FASTA)   NCBI Sequence Viewer  
  NP_569829 (Get FASTA)   NCBI Sequence Viewer  
  NP_569830 (Get FASTA)   NCBI Sequence Viewer  
  NP_569831 (Get FASTA)   NCBI Sequence Viewer  
  NP_569832 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB05595 (Get FASTA)   NCBI Sequence Viewer  
  AAB57735 (Get FASTA)   NCBI Sequence Viewer  
  AAD12154 (Get FASTA)   NCBI Sequence Viewer  
  AAH40484 (Get FASTA)   NCBI Sequence Viewer  
  AAL35261 (Get FASTA)   NCBI Sequence Viewer  
  AAL40265 (Get FASTA)   NCBI Sequence Viewer  
  AAL40266 (Get FASTA)   NCBI Sequence Viewer  
  AAL40267 (Get FASTA)   NCBI Sequence Viewer  
  AAL40268 (Get FASTA)   NCBI Sequence Viewer  
  BAA20814 (Get FASTA)   NCBI Sequence Viewer  
  BAF85131 (Get FASTA)   NCBI Sequence Viewer  
  EAW67930 (Get FASTA)   NCBI Sequence Viewer  
  EAW67931 (Get FASTA)   NCBI Sequence Viewer  
  EAW67932 (Get FASTA)   NCBI Sequence Viewer  
  EAW67933 (Get FASTA)   NCBI Sequence Viewer  
  EAW67934 (Get FASTA)   NCBI Sequence Viewer  
  EAW67935 (Get FASTA)   NCBI Sequence Viewer  
  EAW67936 (Get FASTA)   NCBI Sequence Viewer  
  EAW67937 (Get FASTA)   NCBI Sequence Viewer  
  EAW67938 (Get FASTA)   NCBI Sequence Viewer  
  EAW67939 (Get FASTA)   NCBI Sequence Viewer  
  EAW67940 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000304505
  ENSP00000304505.6
  ENSP00000310933
  ENSP00000310933.4
  ENSP00000343902
  ENSP00000343902.4
  ENSP00000378745
  ENSP00000378745.3
  ENSP00000378753
  ENSP00000378753.3
  ENSP00000384204
  ENSP00000384204.3
  ENSP00000384287
  ENSP00000384287.2
  ENSP00000384435
  ENSP00000384435.1
  ENSP00000385585
  ENSP00000385585.1
  ENSP00000388255.1
  ENSP00000398167.1
  ENSP00000402364.1
  ENSP00000413116.1
  ENSP00000489300
  ENSP00000489300.2
  ENSP00000516602
  ENSP00000516602.1
  ENSP00000516603
  ENSP00000516603.1
  ENSP00000516604
  ENSP00000516604.1
  ENSP00000516605
  ENSP00000516605.1
  ENSP00000516606
  ENSP00000516606.1
  ENSP00000516607
  ENSP00000516607.1
  ENSP00000516608
  ENSP00000516608.1
GenBank Protein Q8WXG6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_569826   ⟸   NM_130470
- Peptide Label: isoform 1
- UniProtKB: A0A0A0MRB5 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003673   ⟸   NM_003682
- Peptide Label: isoform 4
- UniProtKB: Q8WXG5 (UniProtKB/Swiss-Prot),   Q8WXG4 (UniProtKB/Swiss-Prot),   Q8WXG3 (UniProtKB/Swiss-Prot),   Q8IWD7 (UniProtKB/Swiss-Prot),   Q15741 (UniProtKB/Swiss-Prot),   Q15732 (UniProtKB/Swiss-Prot),   O15293 (UniProtKB/Swiss-Prot),   O15065 (UniProtKB/Swiss-Prot),   D3DQR4 (UniProtKB/Swiss-Prot),   B5MEE5 (UniProtKB/Swiss-Prot),   A8K8S7 (UniProtKB/Swiss-Prot),   Q8WZ63 (UniProtKB/Swiss-Prot),   Q8WXG6 (UniProtKB/Swiss-Prot),   A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569829   ⟸   NM_130473
- Peptide Label: isoform 5
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569827   ⟸   NM_130471
- Peptide Label: isoform 2
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569828   ⟸   NM_130472
- Peptide Label: isoform 3
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569830   ⟸   NM_130474
- Peptide Label: isoform 6
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129416   ⟸   NM_001135944
- Peptide Label: isoform 10
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569831   ⟸   NM_130475
- Peptide Label: isoform 7
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_569832   ⟸   NM_130476
- Peptide Label: isoform 8
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129415   ⟸   NM_001135943
- Peptide Label: isoform 9
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001363580   ⟸   NM_001376651
- Peptide Label: isoform 64
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363570   ⟸   NM_001376641
- Peptide Label: isoform 55
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363524   ⟸   NM_001376595
- Peptide Label: isoform 25
- UniProtKB: A0A9L9PXN0 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363505   ⟸   NM_001376576
- Peptide Label: isoform 16
- UniProtKB: A0A0U1RR25 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363543   ⟸   NM_001376614
- Peptide Label: isoform 38
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363560   ⟸   NM_001376631
- Peptide Label: isoform 47
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363554   ⟸   NM_001376625
- Peptide Label: isoform 42
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363559   ⟸   NM_001376630
- Peptide Label: isoform 46
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363565   ⟸   NM_001376636
- Peptide Label: isoform 52
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363567   ⟸   NM_001376638
- Peptide Label: isoform 53
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363545   ⟸   NM_001376616
- Peptide Label: isoform 3
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363548   ⟸   NM_001376619
- Peptide Label: isoform 10
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363577   ⟸   NM_001376648
- Peptide Label: isoform 61
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363550   ⟸   NM_001376621
- Peptide Label: isoform 10
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363529   ⟸   NM_001376600
- Peptide Label: isoform 27
- UniProtKB: A0A9L9PXZ3 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363503   ⟸   NM_001376574
- Peptide Label: isoform 14
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363563   ⟸   NM_001376634
- Peptide Label: isoform 50
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363525   ⟸   NM_001376596
- Peptide Label: isoform 76
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363551   ⟸   NM_001376622
- Peptide Label: isoform 41
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363523   ⟸   NM_001376594
- Peptide Label: isoform 24
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363571   ⟸   NM_001376642
- Peptide Label: isoform 56
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363549   ⟸   NM_001376620
- Peptide Label: isoform 40
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363500   ⟸   NM_001376571
- Peptide Label: isoform 11
- UniProtKB: A0A9L9PXF1 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363501   ⟸   NM_001376572
- Peptide Label: isoform 12
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363502   ⟸   NM_001376573
- Peptide Label: isoform 13
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363528   ⟸   NM_001376599
- Peptide Label: isoform 27
- UniProtKB: A0A9L9PXZ3 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363534   ⟸   NM_001376605
- Peptide Label: isoform 30
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363535   ⟸   NM_001376606
- Peptide Label: isoform 31
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363562   ⟸   NM_001376633
- Peptide Label: isoform 49
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363538   ⟸   NM_001376609
- Peptide Label: isoform 34
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363504   ⟸   NM_001376575
- Peptide Label: isoform 15
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363537   ⟸   NM_001376608
- Peptide Label: isoform 33
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363506   ⟸   NM_001376577
- Peptide Label: isoform 16
- UniProtKB: A0A0U1RR25 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363539   ⟸   NM_001376610
- Peptide Label: isoform 35
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363513   ⟸   NM_001376584
- Peptide Label: isoform 1
- UniProtKB: A0A0A0MRB5 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363541   ⟸   NM_001376612
- Peptide Label: isoform 37
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363508   ⟸   NM_001376579
- Peptide Label: isoform 77
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363509   ⟸   NM_001376580
- Peptide Label: isoform 18
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363552   ⟸   NM_001376623
- Peptide Label: isoform 41
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363522   ⟸   NM_001376593
- Peptide Label: isoform 24
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363512   ⟸   NM_001376583
- Peptide Label: isoform 21
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363540   ⟸   NM_001376611
- Peptide Label: isoform 36
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363542   ⟸   NM_001376613
- Peptide Label: isoform 38
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363507   ⟸   NM_001376578
- Peptide Label: isoform 17
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363553   ⟸   NM_001376624
- Peptide Label: isoform 42
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363557   ⟸   NM_001376628
- Peptide Label: isoform 44
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363510   ⟸   NM_001376581
- Peptide Label: isoform 19
- UniProtKB: A0A9L9PXZ0 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363511   ⟸   NM_001376582
- Peptide Label: isoform 20
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363558   ⟸   NM_001376629
- Peptide Label: isoform 46
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363566   ⟸   NM_001376637
- Peptide Label: isoform 52
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363568   ⟸   NM_001376639
- Peptide Label: isoform 53
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363515   ⟸   NM_001376586
- Peptide Label: isoform 23
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363572   ⟸   NM_001376643
- Peptide Label: isoform 56
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363546   ⟸   NM_001376617
- Peptide Label: isoform 39
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363536   ⟸   NM_001376607
- Peptide Label: isoform 32
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363584   ⟸   NM_001376655
- Peptide Label: isoform 67
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363569   ⟸   NM_001376640
- Peptide Label: isoform 54
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363514   ⟸   NM_001376585
- Peptide Label: isoform 22
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363526   ⟸   NM_001376597
- Peptide Label: isoform 25
- UniProtKB: A0A9L9PXN0 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363527   ⟸   NM_001376598
- Peptide Label: isoform 26
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363574   ⟸   NM_001376645
- Peptide Label: isoform 58
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363532   ⟸   NM_001376603
- Peptide Label: isoform 29
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363581   ⟸   NM_001376652
- Peptide Label: isoform 64
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363544   ⟸   NM_001376615
- Peptide Label: isoform 3
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363582   ⟸   NM_001376653
- Peptide Label: isoform 65
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363533   ⟸   NM_001376604
- Peptide Label: isoform 75
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363585   ⟸   NM_001376656
- Peptide Label: isoform 78
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363547   ⟸   NM_001376618
- Peptide Label: isoform 10
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363590   ⟸   NM_001376661
- Peptide Label: isoform 72
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363591   ⟸   NM_001376662
- Peptide Label: isoform 73
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363587   ⟸   NM_001376658
- Peptide Label: isoform 69
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363579   ⟸   NM_001376650
- Peptide Label: isoform 63
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363561   ⟸   NM_001376632
- Peptide Label: isoform 48
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363578   ⟸   NM_001376649
- Peptide Label: isoform 62
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363531   ⟸   NM_001376602
- Peptide Label: isoform 28
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363555   ⟸   NM_001376626
- Peptide Label: isoform 43
- UniProtKB: A0A9L9PY22 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363586   ⟸   NM_001376657
- Peptide Label: isoform 68
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363556   ⟸   NM_001376627
- Peptide Label: isoform 45
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363588   ⟸   NM_001376659
- Peptide Label: isoform 70
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363564   ⟸   NM_001376635
- Peptide Label: isoform 51
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363583   ⟸   NM_001376654
- Peptide Label: isoform 66
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363575   ⟸   NM_001376646
- Peptide Label: isoform 59
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363573   ⟸   NM_001376644
- Peptide Label: isoform 57
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363576   ⟸   NM_001376647
- Peptide Label: isoform 60
- UniProtKB: A0A9L9PY18 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363589   ⟸   NM_001376660
- Peptide Label: isoform 71
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363592   ⟸   NM_001376663
- Peptide Label: isoform 74
- UniProtKB: A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001363530   ⟸   NM_001376601
- Peptide Label: isoform 27
- UniProtKB: A0A9L9PXZ3 (UniProtKB/TrEMBL),   A0A9L9PYF5 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000489300   ⟸   ENST00000634938
RefSeq Acc Id: ENSP00000304505   ⟸   ENST00000349238
RefSeq Acc Id: ENSP00000398167   ⟸   ENST00000428807
RefSeq Acc Id: ENSP00000388255   ⟸   ENST00000453571
RefSeq Acc Id: ENSP00000384287   ⟸   ENST00000402192
RefSeq Acc Id: ENSP00000385585   ⟸   ENST00000402799
RefSeq Acc Id: ENSP00000310933   ⟸   ENST00000311027
RefSeq Acc Id: ENSP00000413116   ⟸   ENST00000444117
RefSeq Acc Id: ENSP00000384483   ⟸   ENST00000405573
RefSeq Acc Id: ENSP00000384435   ⟸   ENST00000406482
RefSeq Acc Id: ENSP00000384204   ⟸   ENST00000407859
RefSeq Acc Id: ENSP00000378745   ⟸   ENST00000395336
RefSeq Acc Id: ENSP00000378753   ⟸   ENST00000395344
RefSeq Acc Id: ENSP00000343902   ⟸   ENST00000342922
RefSeq Acc Id: ENSP00000402364   ⟸   ENST00000422579
RefSeq Acc Id: ENSP00000516608   ⟸   ENST00000706891
RefSeq Acc Id: ENSP00000516605   ⟸   ENST00000706888
RefSeq Acc Id: ENSP00000516607   ⟸   ENST00000706890
RefSeq Acc Id: ENSP00000516604   ⟸   ENST00000706887
RefSeq Acc Id: ENSP00000516606   ⟸   ENST00000706889
RefSeq Acc Id: ENSP00000516602   ⟸   ENST00000706886
Protein Domains
cDENN   dDENN   Death   uDENN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WXG6-F1-model_v2 AlphaFold Q8WXG6 1-1647 view protein structure

Promoters
RGD ID:6788763
Promoter ID:HG_KWN:12788
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000395342,   ENST00000395344,   ENST00000405573,   NM_001135943,   NM_001135944,   NM_003682,   NM_130470,   NM_130471,   NM_130472,   NM_130473,   NM_130474,   NM_130475,   NM_130476,   OTTHUMT00000317750,   OTTHUMT00000317751,   OTTHUMT00000317752,   UC001NEY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361147,246,546 - 47,248,217 (+)MPROMDB
RGD ID:6789090
Promoter ID:HG_KWN:12791
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC009YLO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361147,268,121 - 47,268,621 (+)MPROMDB
RGD ID:7220235
Promoter ID:EPDNEW_H15864
Type:multiple initiation site
Name:MADD_3
Description:MAP kinase activating death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15866  EPDNEW_H15865  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,382 - 47,269,442EPDNEW
RGD ID:7220241
Promoter ID:EPDNEW_H15865
Type:initiation region
Name:MADD_2
Description:MAP kinase activating death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15864  EPDNEW_H15866  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,269,671 - 47,269,731EPDNEW
RGD ID:7220239
Promoter ID:EPDNEW_H15866
Type:initiation region
Name:MADD_1
Description:MAP kinase activating death domain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15864  EPDNEW_H15865  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381147,270,136 - 47,270,196EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6766 AgrOrtholog
COSMIC MADD COSMIC
Ensembl Genes ENSG00000110514 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311027 ENTREZGENE
  ENST00000311027.9 UniProtKB/Swiss-Prot
  ENST00000342922 ENTREZGENE
  ENST00000342922.8 UniProtKB/TrEMBL
  ENST00000349238 ENTREZGENE
  ENST00000349238.7 UniProtKB/Swiss-Prot
  ENST00000395336 ENTREZGENE
  ENST00000395336.7 UniProtKB/Swiss-Prot
  ENST00000395344 ENTREZGENE
  ENST00000395344.7 UniProtKB/Swiss-Prot
  ENST00000402192 ENTREZGENE
  ENST00000402192.6 UniProtKB/Swiss-Prot
  ENST00000402799 ENTREZGENE
  ENST00000402799.5 UniProtKB/Swiss-Prot
  ENST00000406482 ENTREZGENE
  ENST00000406482.5 UniProtKB/Swiss-Prot
  ENST00000407859 ENTREZGENE
  ENST00000407859.7 UniProtKB/Swiss-Prot
  ENST00000422579.1 UniProtKB/TrEMBL
  ENST00000428807.5 UniProtKB/TrEMBL
  ENST00000444117.5 UniProtKB/TrEMBL
  ENST00000453571.5 UniProtKB/TrEMBL
  ENST00000526603 ENTREZGENE
  ENST00000526603.6 UniProtKB/TrEMBL
  ENST00000634938 ENTREZGENE
  ENST00000634938.2 UniProtKB/TrEMBL
  ENST00000706886 ENTREZGENE
  ENST00000706886.1 UniProtKB/TrEMBL
  ENST00000706887 ENTREZGENE
  ENST00000706887.1 UniProtKB/TrEMBL
  ENST00000706888 ENTREZGENE
  ENST00000706888.1 UniProtKB/TrEMBL
  ENST00000706889 ENTREZGENE
  ENST00000706889.1 UniProtKB/TrEMBL
  ENST00000706890 ENTREZGENE
  ENST00000706890.1 UniProtKB/TrEMBL
  ENST00000706891 ENTREZGENE
  ENST00000706891.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.450.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.11500 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110514 GTEx
HGNC ID HGNC:6766 ENTREZGENE
Human Proteome Map MADD Human Proteome Map
InterPro cDENN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  dDENN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DENN_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MADD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tripartite_DENN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  uDENN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8567 UniProtKB/Swiss-Prot
NCBI Gene 8567 ENTREZGENE
OMIM 603584 OMIM
PANTHER MAP KINASE-ACTIVATING DEATH DOMAIN PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13008 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DENN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  uDENN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30523 PharmGKB
PROSITE DENN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART dDENN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DENN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  uDENN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MRB5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0U1RR25 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PXF1 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PXN0 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PXZ0 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PXZ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PY18 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PY22 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PYF5 ENTREZGENE, UniProtKB/TrEMBL
  A8K8S7 ENTREZGENE
  B5MEE5 ENTREZGENE
  C9J6B0_HUMAN UniProtKB/TrEMBL
  C9JLZ9_HUMAN UniProtKB/TrEMBL
  C9JM97_HUMAN UniProtKB/TrEMBL
  C9K0L0_HUMAN UniProtKB/TrEMBL
  D3DQR4 ENTREZGENE
  MADD_HUMAN UniProtKB/Swiss-Prot
  O15065 ENTREZGENE
  O15293 ENTREZGENE
  Q15732 ENTREZGENE
  Q15741 ENTREZGENE
  Q8IWD7 ENTREZGENE
  Q8WXG3 ENTREZGENE
  Q8WXG4 ENTREZGENE
  Q8WXG5 ENTREZGENE
  Q8WXG6 ENTREZGENE
  Q8WZ63 ENTREZGENE
UniProt Secondary A8K8S7 UniProtKB/Swiss-Prot
  B5MEE5 UniProtKB/Swiss-Prot
  D3DQR4 UniProtKB/Swiss-Prot
  O15065 UniProtKB/Swiss-Prot
  O15293 UniProtKB/Swiss-Prot
  Q15732 UniProtKB/Swiss-Prot
  Q15741 UniProtKB/Swiss-Prot
  Q8IWD7 UniProtKB/Swiss-Prot
  Q8WXG3 UniProtKB/Swiss-Prot
  Q8WXG4 UniProtKB/Swiss-Prot
  Q8WXG5 UniProtKB/Swiss-Prot
  Q8WZ63 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 MADD  MAP kinase activating death domain  MADD  MAP-kinase activating death domain  Symbol and/or name change 5135510 APPROVED